Hs06220153_cn

• Gene Symbol: EYA1
• Assay Reference Genome Location: Chr.8:71202366 on build GRCh38
• Cytoband: 8q13.3

Target Gene Details

• Entrez Gene ID: 2138
• Gene Name: EYA transcriptional coactivator and phosphatase 1
• Gene Aliases: BOP, BOR, BOS1, OFC1
• Location: Chr.8:71197433-71548130 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EYA1	NM_000503.5			NP_000494.2
	NM_001288574.1			NP_001275503.1
	NM_001288575.1			NP_001275504.1
	NM_172058.3			NP_742055.1
	NM_172059.3			NP_742056.1
	NM_172060.3			NP_742057.1
	XM_011517483.2			XP_011515785.1
	XM_011517484.2			XP_011515786.2
	XM_017013201.1			XP_016868690.1
	XM_017013202.1			XP_016868691.1
	XM_017013203.1			XP_016868692.1
	XM_017013204.1			XP_016868693.1
	XM_017013205.1			XP_016868694.1
	XM_017013206.1			XP_016868695.1
	XM_017013207.1			XP_016868696.1
	XM_017013208.1			XP_016868697.1
	XM_017013209.1			XP_016868698.1
	XM_017013210.1			XP_016868699.1
	XM_017013211.1			XP_016868700.1
	XM_017013212.1			XP_016868701.1
	XM_017013213.1			XP_016868702.1
	AF467247.1			AAL73437.1
	AJ000097.1			CAA03922.1
	AJ000098.1			CAA03923.1
	AK127798.1
	AK295897.1
	BC121798.1
	BC121799.1
	DB004805.1

More Information

Additional Information:

For this assay, SNP(s) [rs72622839] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, non-DGV Variation

Gene Ontology Categories:

Process(es)

establishment of mitotic spindle orientation
metanephros development
branching involved in ureteric bud morphogenesis
outflow tract morphogenesis
double-strand break repair
transcription, DNA-templated
pattern specification process
mesodermal cell fate specification
sensory perception of sound
anatomical structure morphogenesis
response to ionizing radiation
striated muscle tissue development
histone dephosphorylation
protein sumoylation
cellular protein localization
establishment or maintenance of apical/basal cell polarity
peptidyl-tyrosine dephosphorylation
aorta morphogenesis
outer ear morphogenesis
middle ear morphogenesis
regulation of neuron differentiation
positive regulation of DNA repair
positive regulation of Notch signaling pathway
positive regulation of transcription from RNA polymerase II promoter
neuron fate specification
embryonic skeletal system morphogenesis
semicircular canal morphogenesis
positive regulation of epithelial cell proliferation
pharyngeal system development
lung epithelial cell differentiation
otic vesicle morphogenesis
positive regulation of secondary heart field cardioblast proliferation
cochlea morphogenesis
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

RNA binding
protein tyrosine phosphatase activity
protein binding
metal ion binding